Nephro-urological complications of epidermolysis bullosa in paediatric patients

Abstract

A small but important proportion of patients with epidermolysis bullosa (EB) may develop significant renal and urological complications which can have a major impact on their morbidity and mortality. During the last 10 years, five of a large group of children with EB under our care, with either dystrophic or junctional types of disease, experienced major nephro-urological complications. Two patients with recessive dystrophic EB (REDB) developed macroscopic haematuria - one had renal failure and underwent a renal biopsy showing IgA nephropathy. A third patient with RDEB also developed renal failure and his biopsy demonstrated postinfectious glomerulonephritis/type III membranoproliferative (mesangiocapillary) glomerulonephritis. Both patients with renal failure underwent peritoneal dialysis. Two patients with junctional EB developed obstructive uropathies, which required bladder reconstruction and the fashioning of a Mitrofanoff channel in one.

Extracutaneous manifestations and complications of inherited epidermolysis bullosa

“…Numerous urologic procedures have been performed in the setting of EB. 123 These have included, but are not restricted to, suprapubic cystostomy, 104 ureterostomy, 105,[124][125][126] ureteral resection and reimplantation, 105,124 meatotomy, 104,127 lysis of the hymen and fused labia, 128 electroresection of the bladder neck and valve, 129 vesicostomy, 129 ureterosigmoidostomy, 129 nephrolithotomy secondary to urinary concretions, 129 fashioning of a Mitrofanoff channel in the appendix, 108 and continent cutaneous urinary diversion. 129 Most of these procedures were successful and well tolerated regardless of the type of EB involved.…”

End-stage renal disease secondary to IgA nephropathy in recessive dystrophic epidermolysis bullosa: a case report

“…Recently, the follow-up of five children with RDEB was reported, and only one of them underwent haemodialysis, which was not tolerated, thus causing death [9]. To the best of our knowledge, this the first case of a child with RDEB successfully treated by haemodialysis.…”

“…The aetiopathogenesis of renal damage is complex. and several factors are involved: (1) frequent antibiotic therapies based on aminoglycosides, notoriously nephrotoxic, used to treat renal and skin infections; (2) cytokine release, particularly amyloid A protein, which, in EB patients, may lead to renal amyloidosis, with nephrotic syndrome and, finally, renal failure [6,7]; (3) immunocomplexes, deposited in glomerular capillary basement membranes or in the mesangium, resulting in post-infectious glomerulonephritis, IgA glomerulonephritis [8], or mesangioproliferative glomerulonephritis [9].…”

Inherited Bullous Diseases

“…En sık RDEB' da ancak DDEB ve JEB'da da görülebilir. Risk genellikle 2. dekatta başlar, agresif seyirli ve kötü prognozludur [28][29][30][31][32][33][34][35][36][37][38] .…”